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William N. Kelley, MD

Arch Intern Med. 1972;130(2):199-206.

Abstract
Human hypoxanthine-guanine phosphoribosyltransferase manifests distinct kinetic, physical, and immunologic properties. A comparison of the normal and spontaneously occurring mutant forms of the enzyme indicates that its deficiency results from a large number of different mutations on a structural gene which is located within the X chromosome. This striking genetic heterogeneity is associated with the development of two distinctive clinical syndromes, the Lesch-Nyhan syndrome and a specific sub-type of gout.

Author Affiliations
Durham, NC

From the Division of Rheumatic and Genetic Diseases; departments of medicine and biochemistry, Duke University Medical Center, Durham, NC.

Footnotes
Received for publication Jan 5, 1972; accepted Feb 17.

Reprint requests to PO Box 3211, Duke University Medical Center, Durham, NC (Dr. Kelley).

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ABSTRACT